Canonical Allele Identifier: CA382834275

Gene: KMT2A

Linked Data

• MyVariant Identifiers: chr11:g.118361928T>C (hg19) ; chr11:g.118491213T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118491213T>C , CM000673.2:g.118491213T>C	GRCh38
NC_000011.9:g.118361928T>C , CM000673.1:g.118361928T>C	GRCh37
NC_000011.8:g.117867138T>C	NCBI36
NG_027813.1:g.59724T>C , LRG_613:g.59724T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000531904.7:c.4813T>C	ENSP00000432391.3:p.Cys1605Arg
ENST00000710560.1:c.4813T>C	ENSP00000518343.1:p.Cys1605Arg
ENST00000685498.1:c.490T>C	ENSP00000509293.1:p.Cys164Arg
ENST00000691053.1:c.4714T>C	ENSP00000509168.1:p.Cys1572Arg
ENST00000389506.10:c.4714T>C	ENSP00000374157.5:p.Cys1572Arg
ENST00000534358.8:c.4714T>C MANE Select	ENSP00000436786.2:p.Cys1572Arg
ENST00000649699.1:c.4600T>C	ENSP00000496927.1:p.Cys1534Arg
ENST00000389506.9:c.4714T>C	ENSP00000374157.5:p.Cys1572Arg
ENST00000392873.3:c.850T>C	ENSP00000376612.3:p.Cys284Arg
ENST00000534358.5:c.4714T>C	ENSP00000436786.1:p.Cys1572Arg
NM_001197104.1:c.4714T>C , LRG_613t1:c.4714T>C	NP_001184033.1:p.Cys1572Arg
NM_005933.3:c.4714T>C	NP_005924.2:p.Cys1572Arg
XM_006718839.2:c.2197T>C	XP_006718902.2:p.Cys733Arg
XM_011542829.1:c.4813T>C	XP_011541131.1:p.Cys1605Arg
XM_011542830.1:c.4810T>C	XP_011541132.1:p.Cys1604Arg
XM_011542831.1:c.4813T>C	XP_011541133.1:p.Cys1605Arg
XM_011542832.1:c.2620T>C	XP_011541134.1:p.Cys874Arg
XM_011542833.1:c.2296T>C	XP_011541135.1:p.Cys766Arg
XM_006718839.3:c.2197T>C	XP_006718902.2:p.Cys733Arg
XM_011542829.2:c.4813T>C	XP_011541131.1:p.Cys1605Arg
XM_011542830.2:c.4810T>C	XP_011541132.1:p.Cys1604Arg
XM_011542831.2:c.4813T>C	XP_011541133.1:p.Cys1605Arg
XM_011542833.2:c.2296T>C	XP_011541135.1:p.Cys766Arg
NM_001197104.2:c.4714T>C MANE Select	NP_001184033.1:p.Cys1572Arg
NM_005933.4:c.4714T>C	NP_005924.2:p.Cys1572Arg